You are here

Article Text

Article menu
Download PDFPDF
Electronic letter
Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome
  1. Delphine Hérona,
  2. Christian Bonnardb,
  3. Claude Morainec,
  4. Annick Toutainc
  1. aGénétique Médicale, Hôpital Pitié-Salpêtrière, 47 boulevard de l'Hôpital, 75651 Paris Cédex 13, France, bOrthopédie Pédiatrique, Hôpital Clocheville, 49 boulevard Béranger, 37044 Tours Cédex 1, France, cService de Génétique, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours Cédex 1, France
  1. Dr Héron, delphine.heron{at}psl.ap-hop-paris.fr

https://doi.org/10.1136/jmg.38.8.e27

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Editor—The syndrome of thrombocytopenia and absent radius (TAR syndrome) is an autosomal recessive condition characterised by congenital hypomegakaryocytic thrombocytopenia and bilateral radial aplasia with the presence of thumbs.1 2Associated abnormalities include other skeletal defects, cardiac malformations, and gastrointestinal disorders.1-4 Lower limb abnormalities, such as coxa valga, ankylosis of the knee, tibial torsion, and hip dislocation have been reported,2 4 5but severe knee dysplasia has rarely been described. We report a case of TAR syndrome presenting with phocomelia of the upper limbs and marked knee dysplasia owing to complete agenesis of the cruciate ligaments and severe hypoplasia of the menisci.

    Case report

    The male proband, the first child of young, healthy, unrelated parents, was born at term by caesarian section after a normal pregnancy. Birth weight was 2760 g (3rd-10th centile) and head circumference was 34 cm. Birth length was only 45 cm (below the 3rd centile) because of irreducible flexion of the knees. Severe phocomelia of the upper limbs and a petechial rash on the trunk were noted at birth. The white blood cell count was 35 400/mm3, haemoglobin 18.8 g/dl, and platelet count 32 000/mm3. Anaemia (7.1 g/dl) with erythroblastopenia developed from the end of the first month, requiring four blood transfusions. Bone marrow aspirations during the first months showed severely reduced megakaryocytes. His platelet count ranged from 3000 to 60 000/mm3 …

    View Full Text